MYOD1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.9% | 3/7 |
| Female | 57.1% | 4/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/7 |
| Birth Weight abnormalities | 57.1% | 4/7 |
| < P3 : Small for gestational age | 57.1% | 4/7 |
| Birth Head circumference abnormalities | 0% | 0/7 |
| Current Height abnormalities | 28.6% | 2/7 |
| < P3 : Short stature | 28.6% | 2/7 |
| Current Weight abnormalities | 14.3% | 1/7 |
| < P3 : Decreased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 0% | 0/7 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 2/4 |
| Dysphagia | 50.0% | 2/4 |
| Gowers sign | 50.0% | 2/4 |
| Abnormality of muscle size | 25.0% | 1/4 |
| Areflexia | 25.0% | 1/4 |
| Brisk reflexes | 25.0% | 1/4 |
| Lower limb muscle weakness | 25.0% | 1/4 |
| Muscular hypotonia of the trunk | 25.0% | 1/4 |
| Neck flexor weakness | 25.0% | 1/4 |
| Upper limb muscle weakness | 25.0% | 1/4 |
| Waddling gait | 25.0% | 1/4 |
| Weak voice | 25.0% | 1/4 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormality of the cerebrospinal fluid | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 16.7% | 1/6 |
| Low-set ears | 16.7% | 1/6 |
| Abnormality of the eye | 71.4% | 5/7 |
| Downslanted palpebral fissures | 42.9% | 3/7 |
| Ptosis | 42.9% | 3/7 |
| Esotropia | 14.3% | 1/7 |
| Proptosis | 14.3% | 1/7 |
| Short palpebral fissure | 14.3% | 1/7 |
| Telecanthus | 14.3% | 1/7 |
| Underdeveloped supraorbital ridges | 14.3% | 1/7 |
| Abnormality of the mouth | 100.0% | 6/6 |
| Median cleft palate | 50.0% | 3/6 |
| Mandibular prognathia | 33.3% | 2/6 |
| Narrow jaw | 33.3% | 2/6 |
| Tented upper lip vermilion | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 16.7% | 1/6 |
| Patent foramen ovale | 16.7% | 1/6 |
| Pulmonary hypertension | 16.7% | 1/6 |
| Tricuspid regurgitation | 16.7% | 1/6 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 7/7 |
| Abnormality of the diaphragm | 57.1% | 4/7 |
| Pulmonary hypoplasia | 42.9% | 3/7 |
| Hypercapnia | 28.6% | 2/7 |
| Respiratory failure | 28.6% | 2/7 |
| Diaphragmatic eventration | 14.3% | 1/7 |
| Dyspnea | 14.3% | 1/7 |
| Pneumonia | 14.3% | 1/7 |
| Respiratory distress | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 14.3% | 1/7 |
| Decreased liver function | 14.3% | 1/7 |
| Urogenital | ||
| Abnormality of the urogenital system | 28.6% | 2/7 |
| Cryptorchidism | 28.6% | 2/7 |
| Dilatation of the renal pelvis | 14.3% | 1/7 |
| Hydronephrosis | 14.3% | 1/7 |
| Renal duplication | 14.3% | 1/7 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 7/7 |
| Distal arthrogryposis | 28.6% | 2/7 |
| Overlapping toe | 28.6% | 2/7 |
| Pectus excavatum | 28.6% | 2/7 |
| Abnormality of the costochondral junction | 14.3% | 1/7 |
| Abnormality of the scapula | 14.3% | 1/7 |
| Clinodactyly of the 5th finger | 14.3% | 1/7 |
| Hand clenching | 14.3% | 1/7 |
| Interphalangeal joint contracture of finger | 14.3% | 1/7 |
| Joint contracture of the hand | 14.3% | 1/7 |
| Knee flexion contracture | 14.3% | 1/7 |
| Narrow chest | 14.3% | 1/7 |
| Overlapping fingers | 14.3% | 1/7 |
| Small hand | 14.3% | 1/7 |
| Tapered finger | 14.3% | 1/7 |
| Thoracic kyphoscoliosis | 14.3% | 1/7 |
| Toe clinodactyly | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 14.3% | 1/7 |
| Generalized hypertrichosis | 14.3% | 1/7 |
| Long eyelashes | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 25.0% | 1/4 |
| Recurrent respiratory infections | 25.0% | 1/4 |